Canonical Allele Identifier: CA2575295786

Gene: MYL2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110911028A>G , CM000674.2:g.110911028A>G	GRCh38
NC_000012.11:g.111348832A>G , CM000674.1:g.111348832A>G	GRCh37
NC_000012.10:g.109833215A>G	NCBI36
NG_007554.1:g.14550T>C , LRG_393:g.14550T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000228841.15:c.*49T>C MANE Select	ENSP00000228841.8:n.*49T>C
ENST00000663220.1:c.*49T>C	ENSP00000499568.1:n.*49T>C
ENST00000228841.12:c.*49T>C	ENSP00000228841.7:n.*49T>C
ENST00000548438.1:c.*49T>C	ENSP00000447154.1:n.*49T>C
NM_000432.3:c.*49T>C , LRG_393t1:c.*49T>C	NP_000423.2:n.*49T>C
NM_000432.4:c.*49T>C MANE Select	NP_000423.2:n.*49T>C